Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF). 26626649

2016

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 CausalMutation CLINVAR Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. 25698270

2015

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 CausalMutation CLINVAR Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study. 23425079

2013

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 CausalMutation CLINVAR The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 19293426

2009

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. 18600100

2009

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE Low burden of a JAK2-V617F mutated clone in monoclonal haematopoiesis in a Japanese woman with Budd-Chiari syndrome. 19308656

2009

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. 17133457

2007

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 CausalMutation CLINVAR Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 16762626

2006

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE The purpose of this study was to use JAK2 V617F analysis to re-evaluate the validity of elevated Epo levels as a PV-exclusion criterion in patients with hepatic vein thrombosis [Budd-Chiari syndrome (BCS)]. 16827884

2006

dbSNP: rs77375493
rs77375493
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.760 GeneticVariation BEFREE Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 16762626

2006